التفاصيل البيبلوغرافية
العنوان:
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
المؤلفون:
Serra, Eva Gonçalves , Schwerd, Tobias , Moutsianas, Loukas , Cavounidis, Athena , Fachal, Laura , Pandey, Sumeet , Kammermeier, Jochen , Croft, Nicholas M. , Posovszky, Carsten , Rodrigues, Astor , Russell, Richard K. , Barakat, Farah , Auth, Marcus K. H. , Heuschkel, Robert , Zilbauer, Matthias , Fyderek, Krzysztof , Braegger, Christian , Travis, Simon P. , Satsangi, Jack , Parkes, Miles , Thapar, Nikhil , Ferry, Helen , Matte, Julie C. , Gilmour, Kimberly C. , Wedrychowicz, Andrzej , Sullivan, Peter , Moore, Carmel , Sambrook, Jennifer , Ouwehand, Willem , Roberts, David , Danesh, John , Baeumler, Toni A. , Fulga, Tudor A. , Karaminejadranjbar, Mohammad , Ahmed, Ahmed , Wilson, Rachel , Barrett, Jeffrey C. , Elkadri, Abdul , Griffiths, Anne M. , Snapper, Scott B. , Shah, Neil , Muise, Aleixo M. , Wilson, David C. , Uhlig, Holm H. , Anderson, Carl A. , Zurek, Marlen , Strisciuglio, Caterina , Elawad, Mamoun , Lo, Bernice , Arancibia-Carcamo, Carolina , Bailey, Adam , Barnes, Ellie , Bird-Lieberman, Elizabeth Louise , Brain, Oliver , Braden, Barbara , Collier, Jane , East, James , Howarth, Lucy , Keshav, Satish , Klenerman, Paul , Leedham, Simon , Palmer, Rebecca , Powrie, Fiona , Simmons, Alison , Walker, Matthew , Tolkien, Zoe , Kaptoge, Stephen , Allen, David , Mehenny, Susan , Mant, Jonathan , Di Angelantonio, Emanuele , Thompson, Simon G. , Yilmaz, Bahtiyar , Juillerat, Pascal , Geuking, Markus , Wiest, Reiner , Macpherson, Andrew J. , Bravo, Francisco Damian , Brügger, Lukas , Carstens, Ove , Bigler, Ulrike Graf , Heimgartner, Benjamin , Rusticeanu, Monica , Schmid (-Uebelhart), Sybille , Strebel, Bruno , Tatu, Aurora , Tutuian, Radu , Øyås, Ove , Ramon, Charlotte , Stelling, Jörg , Franc, Yannick , Fournier, Nicolas , Pittet, Valerie E. H. , Burnand, Bernard , Egger, Mara , Golay, Delphine , Marot, Astrid , Musso, Leilla , Pittet, Valérie , Rossel, Jean-Benoît , Seematter, Vivianne , Sommer, Joachim , Vulliamy, Rachel , Michetti, Pierre , Maillard, Michel H. , Keller, Céline , Nydegger, Andreas , Schoepfe, Alain , Archanioti, Eva , Ezri, Jessica , Fraga, Montserrat , Schoepfer, Alain , Müller, Christoph , Rogler, Gerhard , Biedermann, Luc , Blattmann, Mirjam , Burk, Sabine , Dora, Barbara , Fried, Michael , Misselwitz, Benjamin , Müllhaupt, Beat , Obialo, Nicole , Pohl, Daniel , Raschle, Nadia , Scharl, Michael , Vavricka, Stephan , Von Känel, Roland , Zeitz, Jonas , Abdelrahman, Karim , Ademi, Gentiana , Borovicka, Jan , Brand, Stephan , Frei, Remus , Haarer, Johannes , Knellwolf (-Grieger), Christina , Krieger(-Grübel), Claudia , Künzler, Patrizia , Meyenberger, Christa , Meyer, Pamela , Röhrich, Nina , Sawatzki, Mikael , Schelling, Martin , Semadeni, Gian-Marco , Sulz, Michael , Zimmermann, Dorothee , Aepli, Patrick , Criblez, Dominique H. , Hess, Cyrill , Richterich, Jean-Pierre , Spalinger, Johannes , Staudenmann, Dominic , Stulz, Andreas , Wöhrle, Stefanie , Thomas, Amman , Anderegg, Claudia , Köhler, Henrik , Kusche, Rachel , Antonino, Anca-Teodora , Arrigoni, Eviano , Bengoa, José M. , Cunningham, Sophie , De Saussure, Philippe , Girard, Laurent , De Jong, Diana Bakker , Bastürk, Polat , Brunner, Simon , Degen, Lukas , Hruz, Petr , Bakker, Carolina Khalid-De , Niess, Jan , Balsiger, Bruno , Haldemann, Janine , Saner, Gaby , Seibold, Frank , Bauerfeind, Peter , Becocci, Andrea , Belli, Dominique , Binek, Janek , Hengstler, Peter , Boehm, Stephan , Boldanov, Tujana , Bühr, Patrick , Koller, Rebekka , Rueger, Vanessa , Senning, Arne , Burri, Emanuel , Buyse, Sophie , Cao, Dahlia-Thao , D’Angelo, Fabrizia , Delarive, Joakim , Doerig, Christopher , Hessler, Roxane , Preissler, Claudia , Rentsch, Ronald , Risti, Branislav , Ritz, Marc Alain , Steuerwald, Michael , Vögtlin, Jürg , Sagmeister, Markus , Sauter, Bernhard , Schibli, Susanne , Sokollik, Christiane , Schlauri, Hugo , Schnegg, Jean-François , Seirafi, Mariam , Spangenberger, Holger , Stadler, Philippe , Staub, Peter , Stenz, Volker , Tempia-Caliera, Michela , Thorens, Joël , Truninger, Kaspar , Urfer, Patrick , Viani, Francesco , Vouillamoz, Dominique , Zander, Silvan , Wyli, Tina , Jostins, L. , Kennedy, N. A. , Ahmad, T. , Lamb, C. A. , Edwards, C. , Hart, A. , Hawkey, C. , Mansfield, J. C. , Mowat, C. , Newman, W. G. , Simmons, A. , Tremelling, M. , Lee, J. C. , Prescott, N. J. , Mathew, C. G. , Lees, C. W. , McGovern, D. P. B. , Targan, S. R. , Botwin, G. , Mengesha, E. , Fleshner, P. , Landers, C. , Li, D. , Rioux, J. D. , Bitton, A. , Côté-Daigneault, J. , Daly, M. J. , Xavier, R. , Morris, K. , Boucher, G. , Cho, J. H. , Abraham, C. , Merad, M. , Sands, B. , Peter, I. , Hao, K. , Itan, Y. , Duerr, R. H. , Konnikova, L. , Schwartz, M. B. , Proksell, S. , Johnston, E. , Miladinova, V. , Chen, W. , Brant, S. R. , Datta, L. , Silverberg, M. S. , Schumm, L. P. , Birch, S. , Giri, M. , Gettler, K. , Sharma, Y. , Stevens, C. , Lazarev, M. , Haritunians, T.
بيانات النشر:
Apollo - University of Cambridge Repository
مصطلحات موضوعية:
49/31 , 45 , article , 45/22 , 631/208/1516 , 692/699/249/1570 , 45/23 , 631/250/249/2510/257 , 631/208/248 , 13 , digestive system diseases , 3. Good health , 49
الوصف:
Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10−10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P < 5 × 10−10). This discovery indicates that a polygenic component operates in VEO-IBD pathogenesis.
الوصول الحر:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1d96bf809279093cebc711af4ebf39dTest
رقم الانضمام:
edsair.doi...........c1d96bf809279093cebc711af4ebf39d
قاعدة البيانات:
OpenAIRE
